Genomics

Alabama research finds higher false positives in DNA tests for Black participants


African Americans who participated in an Alabama effort to increase access to genetic health screenings had higher rates of false positives for markers related to cancer and heart disease, according to researchers.

Genetic testing has become increasingly widespread, with direct-to-consumer companies like 23andMe offering DNA reports about ancestry and health traits. Black participants are more likely to get inaccurate results that may lead to anxiety and invasive screenings for cancer, said Dr. Greg Barsh, faculty investigator at HudsonAlpha Institute for Biotechnology in Huntsville.

“The accuracy of the technology that we’re using to identify genomic risk factors varies according to ancestry,” Barsh said. “In particular, individuals with some African ancestry, there’s a higher risk of false positives. DNA that is of African origin needs to be thought about and treated a little bit differently than DNA of European origin.”

The Alabama Genomic Health Initiative, a partnership between the University of Alabama at Birmingham and the HudsonAlpha Institute, launched five years ago with state support to recruit people for free genetic health screenings.

More than 6,000 Alabamians have had their DNA tested for variants that can increase risks for cancer and heart disease, said Dr. Bruce Korf, chief genomic officer for UAB. Researchers discovered that raw genetic data often showed false positives for Black participants.

Researchers with the Alabama Genomic Health Initiative discovered the differences during its validation process. The program double-checks all positive results before providing results to people in the program. Validation revealed false positives more often in Black participants.

Alabama was the first state in the country to launch a project to bring genomic medicine to the masses when the initiative launched in 2016. Tests of more than 6,000 residents found that about 1.5 percent had a genetic variation that increased risks for cancer or heart disease, Korf said. One of the goals was to identify people with health risks that could be reduced with proper medical care.

“Are we succeeding in preventing disease among the participants?” Kork said. “It’s too soon to judge that, but that is our goal.”

The Alabama Genomic Health Initiative uses genetic counselors to help communicate information about disease risk. Kelly East, a genetic counselor at HudsonAlpha, said a false positive could cause a person to undergo invasive screenings or even unnecessary surgery to prevent disease.

“You don’t want those kinds of things happening based on a false positive,” East said.

Researchers have learned several things to improve the use of genomics in medicine. In addition to the higher rate of false positives, they discovered that almost every participant has at least one genetic variant that could affect how they process prescription medication, Korf said.

“We have not returned pharmacogenetic information direct to participants at this point because we did not them to change their medication on their own,” Korf said.

Those results have pushed the initiative in a new direction. Results can be shared not just with participants, but also with their doctors, who can use genetic information to help make decisions about prescription drugs. That could help speed the integration of genomic medicine and primary care.

“It’s not so crazy to envision that in the not-so-distant future, I would say less than 10 years, maybe less than 5, everybody will get a genome sequence at birth,” Barsh said. “They will control that information. They will be able to use that information in any way they see fit. And their family doc or pediatrician or internist or OBGYN will be able to say, oh yeah, let’s check and see if you have any risk factors or if this drug is good or bad for you. That’s where we hope we’re going to go.”

Certain patients with a family history of disease or those with money for home genetic tests may already have access to genomic information. The long-term goal of the Alabama Genomic Health Initiative is to increase access to that information across the state. They have participants in all of Alabama’s 67 counties.

“It was a big celebratory moment as we hit all counties participating,” East said.

The pandemic put the program on pause, but Korf said they expect to resume recruitment after COVID cases decline. In the next phase, they hope to work more closely with doctors and other providers to show how genetic information can improve care. They hope to do that across the state, not just in the cities.

“The big picture goal is to make sure that genomic medicine is able to be delivered to diverse populations who otherwise might be left behind as these technological advances move forward,” Korf said. “So we’re trying very hard to be inclusive and to make sure that this is really going to serve the entire population.”



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